ARSH Gene (Arylsulfatase H)
Comprehensive gene information for ARSH, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | ARSH |
|---|---|
| Full Name | Arylsulfatase H |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.31 |
| NCBI Gene ID | 340526 ncbi.nlm.nih.gov/gene/340526 |
| Ensembl ID | ENSG00000182326 |
| UniProt ID | Q5FYB0 |
| OMIM ID | 300586 |
| HGNC ID | 32608 |
| Aliases | ARS, ARSH1, ARSH2 |
Description
ARSH (arylsulfatase H) is a protein-coding gene located on the X chromosome. It belongs to the sulfatase family and is involved in the hydrolysis of sulfate esters. The gene is primarily expressed in the brain and testis, and its function is not fully characterized. Mutations in ARSH have been associated with X-linked ichthyosis and other disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked ichthyosis | Loss of function of ARSH contributes to abnormal steroid sulfatase activity, leading to skin scaling. | ClinVar, OMIM |
| Intellectual disability | Deletions encompassing ARSH on Xp22.31 are associated with neurodevelopmental phenotypes. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.2 | Low |
| Testis | 2.8 | Low |
| Skin | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 2.1 | Neuroblastoma cell line |
| HEK293 | 1.8 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely benign |
| c.100C>T | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) lead to premature stop codons and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • sulfuric ester hydrolase activity (GO:0008484) | • metabolic process (GO:0008152) |
| • cytoplasm (GO:0005737) |
Pathways
• Sulfatase pathway (Reactome: R-HSA-1600652)
Protein Summary
Arylsulfatase H is a 593-amino acid protein with a molecular weight of approximately 66 kDa. It contains a conserved sulfatase domain and is predicted to localize to the cytoplasm. The protein is involved in the hydrolysis of sulfate esters, though its specific substrates remain unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARSH Knockout HEK293 Cell Line | EDJ-KQ12442 | Human | 347527 | Details Get a Quote |
| ARSH Knockout HeLa Cell Line | EDJ-KQ59820 | Human | 347527 | Details Get a Quote |
| ARSH Knockout A-549 Cell Line | EDJ-KQ68289 | Human | 347527 | Details Get a Quote |
| ARSH Knockout HCT 116 Cell Line | EDJ-KQ76663 | Human | 347527 | Details Get a Quote |
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